List of variants in gene combination CYP2R1, PDE3B reported as likely benign for Vitamin D hydroxylation-deficient rickets, type 1B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)	rs117913124	0.01540
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=)	rs111576400	0.00790
NM_024514.5(CYP2R1):c.368-12A>T	rs189127299	0.00447
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=)	rs145794885	0.00085
NM_024514.5(CYP2R1):c.1330+17G>A	rs782405402	0.00014
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)	rs184549196	0.00013
NM_024514.5(CYP2R1):c.497A>G (p.Asn166Ser)	rs781906434	0.00006
NM_024514.5(CYP2R1):c.1001-5G>C	rs782338771	0.00001
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=)	rs111824082	0.00001

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